Canonical Allele Identifier: CA2697552178

Gene: PLOD1

Linked Data

• ClinVar Variation Id: 2748972
• ClinVar RCV Id: RCV003514922

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965462del , CM000663.2:g.11965462del	GRCh38
NC_000001.10:g.12025519del , CM000663.1:g.12025519del	GRCh37
NC_000001.9:g.11948106del	NCBI36
NG_008159.1:g.35774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1471-18del MANE Select	ENSP00000196061.4:n.1471-18del
ENST00000196061.4:c.1471-18del	ENSP00000196061.4:n.1471-18del
ENST00000470133.1:n.85-18del
ENST00000491536.5:n.99-18del
NM_000302.3:c.1471-18del	NP_000293.2:n.1471-18del
NM_001316320.1:c.1612-18del	NP_001303249.1:n.1612-18del
XM_011541594.1:c.1552-18del	XP_011539896.1:n.1552-18del
XM_024447707.1:c.805-18del	XP_024303475.1:n.805-18del
NM_000302.4:c.1471-18del MANE Select	NP_000293.2:n.1471-18del
NM_001316320.2:c.1612-18del	NP_001303249.1:n.1612-18del